Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families
- Author
- GILBERT, H. L1 ; BUXTON, J. L1 ; CHAN, C. T. J. J1 ; MCKAY, T1 ; COTTRELL, S1 ; RAMSDEN, S2 ; WINTER, R. M1 ; PEMBREY, M. E1 ; MALCOLM, S1
[1] Division of Biochemistry and Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
[2] North Western Regional Molecular Genetics Laboratory, St Mary's Hospital, Hathersage Road, Manchester M13 OJH, United Kingdom - Source
Journal of medical genetics. 1997, Vol 34, Num 8, pp 651-655 ; ref : 38 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Biologie moléculaire Conseil génétique Diagnostic Délétion Empreinte génomique Etude familiale Foetus pathologie Happy puppet syndrome Homme Prénatal Encéphale pathologie Gestation pathologie Maladie congénitale Malformation Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Molecular biology Genetic counseling Diagnosis Deletion Genomic imprinting Family study Fetal diseases Happy puppet syndrome Human Prenatal Cerebral disorder Pregnancy disorders Congenital disease Malformation Central nervous system disease Nervous system diseases
- Keyword (es)
- Biología molecular Consejo genético Diagnóstico Deleción Huella genómica Estudio familiar Feto patología Titere Feliz síndrome Hombre Prenatal Encéfalo patología Gestación patología Enfermedad congénita Malformación Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2780503
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1136/jmg.34.8.651 
https://dx.doi.org/10.1136/jmg.34.8.651
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1136\/jmg.34.8.651\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:2:\"34\";s:8:\"\u0000*\u0000issue\";s:1:\"8\";s:8:\"\u0000*\u0000spage\";s:3:\"651\";s:8:\"\u0000*\u0000epage\";s:3:\"655\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"GILBERT\";s:10:\"\u0000*\u0000aufirst\";s:4:\"H. L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:12:\"BUXTON, J. L\";i:1;s:16:\"CHAN, C. T. J. J\";i:2;s:8:\"MCKAY, T\";i:3;s:11:\"COTTRELL, S\";i:4;s:10:\"RAMSDEN, S\";i:5;s:12:\"WINTER, R. M\";i:6;s:13:\"PEMBREY, M. E\";i:7;s:10:\"MALCOLM, S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:3:\"BMJ\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1136\/jmg.34.8.651\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:2:\"34\";s:8:\"\u0000*\u0000issue\";s:1:\"8\";s:8:\"\u0000*\u0000spage\";s:3:\"651\";s:8:\"\u0000*\u0000epage\";s:3:\"655\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"GILBERT\";s:10:\"\u0000*\u0000aufirst\";s:4:\"H. L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:12:\"BUXTON, J. L\";i:1;s:16:\"CHAN, C. T. J. J\";i:2;s:8:\"MCKAY, T\";i:3;s:11:\"COTTRELL, S\";i:4;s:10:\"RAMSDEN, S\";i:5;s:12:\"WINTER, R. M\";i:6;s:13:\"PEMBREY, M. E\";i:7;s:10:\"MALCOLM, S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:3:\"BMJ\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:20:\"10.1136\/jmg.34.8.651\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1136\/jmg.34.8.651\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:2:\"34\";s:8:\"\u0000*\u0000issue\";s:1:\"8\";s:8:\"\u0000*\u0000spage\";s:3:\"651\";s:8:\"\u0000*\u0000epage\";s:3:\"655\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"GILBERT\";s:10:\"\u0000*\u0000aufirst\";s:4:\"H. L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:12:\"BUXTON, J. L\";i:1;s:16:\"CHAN, C. T. J. J\";i:2;s:8:\"MCKAY, T\";i:3;s:11:\"COTTRELL, S\";i:4;s:10:\"RAMSDEN, S\";i:5;s:12:\"WINTER, R. M\";i:6;s:13:\"PEMBREY, M. E\";i:7;s:10:\"MALCOLM, S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:3:\"BMJ\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1136\/jmg.34.8.651\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:2:\"34\";s:8:\"\u0000*\u0000issue\";s:1:\"8\";s:8:\"\u0000*\u0000spage\";s:3:\"651\";s:8:\"\u0000*\u0000epage\";s:3:\"655\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"GILBERT\";s:10:\"\u0000*\u0000aufirst\";s:4:\"H. L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:12:\"BUXTON, J. L\";i:1;s:16:\"CHAN, C. T. J. J\";i:2;s:8:\"MCKAY, T\";i:3;s:11:\"COTTRELL, S\";i:4;s:10:\"RAMSDEN, S\";i:5;s:12:\"WINTER, R. M\";i:6;s:13:\"PEMBREY, M. E\";i:7;s:10:\"MALCOLM, S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:3:\"BMJ\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:20:\"10.1136\/jmg.34.8.651\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:9:\"\u0000*\u0000jtitle\";s:27:\"Journal of medical genetics\";s:9:\"\u0000*\u0000stitle\";s:13:\"J. med. genet\";s:7:\"\u0000*\u0000date\";s:4:\"1997\";s:9:\"\u0000*\u0000volume\";s:2:\"34\";s:8:\"\u0000*\u0000issue\";s:1:\"8\";s:8:\"\u0000*\u0000spage\";s:3:\"651\";s:8:\"\u0000*\u0000epage\";s:3:\"655\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"0022-2593\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:7:\"GILBERT\";s:10:\"\u0000*\u0000aufirst\";s:4:\"H. L\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:8:{i:0;s:12:\"BUXTON, J. L\";i:1;s:16:\"CHAN, C. T. J. J\";i:2;s:8:\"MCKAY, T\";i:3;s:11:\"COTTRELL, S\";i:4;s:10:\"RAMSDEN, S\";i:5;s:12:\"WINTER, R. M\";i:6;s:13:\"PEMBREY, M. E\";i:7;s:10:\"MALCOLM, S\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:6:\"JMDGAE\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:101:\"Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families\";s:8:\"\u0000*\u0000place\";s:6:\"London\";s:6:\"\u0000*\u0000pub\";s:3:\"BMJ\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:0:\"\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
